Severity Of Mental Retardation Research Articles

OCULAR MANIFESTATIONS IN MENTALLY CHALLENGED CHILDREN

Purpose: To identify the ocular disorders in mentally challenged children attending a special school. Methods: A total of 100 mentally challenged children in the age group of 3-16 years attending special school in a district of South India were examined. Complete ocular examination was done. Ocular problems were identied and categorized into development related, hygiene related and IQ related problems. Results: Seventy children (70%) had ocular problems. Refractive error and strabismus were the common ocular problems seen in this study. Ocular manifestations like nystagmus, congenital ptosis, anti mongoloid slant, wide telecanthus with epicanthus, chalazia, stye, blepharitis, congenital NLD obstruction, conjunctivitis, xerosis, microcornea, corneal opacities, congenital cataracts, optic atrophy, retinitis pigmentosa were seen. An association was found between the severity of mental retardation and ocular problems (P<0.005). Conclusion: A high prevalence of ocular problems was seen in mentally retarded school children. These children should undergo annual ophthalmic evaluation. Visual function of the children should be assessed as soon as the child is admitted to the school. Earlier assessment and correction of the visual problems will have greater chance of achieving potential and will prevent visual impairment. Aim of the study: To identify the ocular disorders in mentally challenged children attending National Institute of Mental Health, a special school for such children.

Immunological parameters in assessing the risk of decompensation in children with mental retardation

To analyze the correlation between clinical and immunological parameters in children with mental retardation (MR) in order to explore the possibilities of using immunological data in assessing the severity of patient's condition and predicting a risk of decompensation, exacerbation of mental disorders comorbid to MR. Seventy-three school children, aged 8-17 years, mean age 12,6±2,4 years, with MR of different genesis and 64 physically and mentally healthy children (control group) of the same age and sex were studied clinically and immunologically. The degree of clinical severity of MR was evaluated by CGI-S scale (the Clinical global impression-severity), the level of intellectual disabilities was evaluated by the Wechsler Intelligence Scale. Enzymatic activity of leukocyte elastase; functional activity of α1-proteinase inhibitor; levels of autoantibodies to neurospecific antigens - S-100b and myelin basic protein were analyzed in the serum of patients and healthy children. The activation of the immune system was associated with comorbid to MR current psychopathological disturbances that were more severe, persistent and required long-term maintenance treatment. Analysis of immunological parameters can be used in children with MR treated in outpatient network as an additional test for the detection of mental state decompensation.

Indian Children with Developmental Disabilities: Early versus Late Referral for Intervention

To study the age at referral, of children with neurodevelopmental disabilities to Child Development and Early Intervention Clinic and compare the neuromorbidity and socio-economic profile of the early and late presenters. This retrospective observational study was conducted at Child Development and Early Intervention Clinic (CDEIC) located in Northern India. Case records of children enroled at CDEIC in last 5 y; with neurodevelopmental disabilities namely Mental Retardation/Global Developmental Delay, Cerebral Palsy, hearing and vision impairment were separated and studied. Two thousand and twenty cases were included in this study. 62.8 % presented before 3 y of age (early presenters) and 37.1 % presented at 3 y or more (late presenters). There was no difference in the overall rates and severity of mental retardation in early and late presenters. The proportion of children with quadriparetic cerebral palsy, hearing impairment, vision impairment and multiple disabilities was significantly more in early presenters. The early presenters had better parental education status, less number of siblings, better immunization status and more were delivered at a hospital and residing in urban areas. Large numbers of children with neurodevelopmental disabilities are referred late for intervention services, leading to loss of opportunity for early intervention. Children with purely mental disability are the ones, most likely to be referred late. Socio-economic differences are significantly contributing to these delayed referrals.

Ocular disorder in children with mental retardation

Background:Ocular problems are common in mentally retarded children. Due to population growth these problems are increasing. Prevalence rate is variable from region to region. Data on ocular problems in mentally retarded school children is lacking in this region.Aim:The aim of the present study was to identify the ocular disorders in children with mental retardation attending special schools in a district and to study their relationship with the degree of retardation.Materials and Methods:A total of 241 mentally retarded school children in the age group of 6-16 years attending special schools for the mentally retarded children in a district in central India were examined by a team of ophthalmologist, psychiatrist, and a resident in ophthalmology department of a medical college. Complete ocular examination was done. Ocular problems were identified and categorized according to the intelligent quotient.Results:One hundred and twenty four children (51.45%) had ocular problems. Strabismus (10.37%) and refractive error (20.75%) were the common ocular problems seen in this study. An association was found between the severity of mental retardation and ocular problems (P<0.005). However, no association was seen between the severity of mental retardation and strabismus and refractive error.Conclusion:A high prevalence of ocular problems was seen in mentally retarded school children. Children with mental retardation should undergo annual ophthalmological check up. Early detection and correction of ocular problems will prevent visual impairment in future.

Diagnostic characteristics of care receivers with intellectual disabilities and the difficulty and burden experienced by family caregivers

This study investigated the difficulty and burden experienced by people caring for a family member with mental retardation in Hong Kong and the extent to which caregiving difficulty and burden are modulated by the diagnostic characteristics of care recipients. The Caregiving Difficulty Scale and Caregiver Burden Inventory were administered to 992 primary caregivers. The results indicate that various facets of caring difficulty and burden are differentially responsive to the severity of mental retardation and additional diagnoses of clinical disorders. Even individuals who suffer disorders pertaining to the same spectrum, such as autistic disorder and autistic features, differ in their functional and self-care capacities. Accordingly, psychological services and programmes designed for supporting people with intellectual disabilities and their families should adopt a multidimensional perspective of caring stress and take into account not only the demographic backgrounds of caregivers but also the clinical features of care receivers.

Periodontal Health Status of A Group of (Non-Institutionalized) Mentally Disabled Children in Khartoum State

ABSTRACTAimThe aim of this study is to assess the periodontal health status and its determinants among a group of mentally disabled children in Khartoum State and to compare it with a control group of children of normal intelligence.MethodsThirty seven mentally disabled children aged 8-10 years were examined at five centres of mentally disabled children in Khartoum State. A control group with normal intelligence quotient of a similar age and socioeconomic status was selected from schools nearby the centres visited. Both mentally disabled children and the children in the control group were examined for their plaque index, gingival index and periodontal pocket depth. A comparison was made between the mentally disabled children and the healthy children as well as between the subgroups of the mentally disabled children (mild, moderate, and severe). Questionnaires concerning the degree of mental disability, level of parent education, role of parents toward child oral health, were also used.ResultsThe results revealed that the mentally disabled children showed higher scores of plaque and gingival index (1.9, 1.7 respectively) when compared with the plaque and gingival index of the control group (0.6, 0.6 respectively). No increase in gingival sulcus depth in both study and control group was found. According to the degree of mental disability there was statistically significant difference in plaque and gingival index among the mild, moderate and severe subgroups (P=0.001), the plaque and gingival index tend to increase with the severity of mental retardation. Conclusion. Mentally disabled children showed more plaque when compared with healthy controls. Periodontal disease was more prevalent among mentally disabled children as presented in the form of gingivitis and the degree of severity depends on the degree of mental disability.

Cytogenetic Analysis of Mentally Retarded Patients in Srikakulam

KEYWORDS Chromosomal Abnormalities. 5p Deletion. Translocation. Microcephaly. Seizures ABSTRACT The present study is undertaken to analyze the frequency of chromosomal abnormalities in mentally retarded patients (mild, moderate and severe), and to determine the types of chromosomal abnormalities that play a major role in causing mental retardation. Thirty subjects of both gender in the age group of 05-50 years were selected for study from Behara Manovikas Kendram'' of Srikakulam. Peripheral blood samples were collected from the patients with the help of technicians from TRIMS, Visakhapatnam and the samples were subjected to chromosomal analysis. Physical features like microcephaly, seizures, status of retardation etc., were also noted. The metaphase studies clearly revealed 5p deletions, Mosaic Down syndrome, 5q additions. One case revealed translocation in 9 and 17 chromosomes which also showed blast cells in Blood Smear. Chromosomal abnormalities play a vital role in causing mental retardation and its frequency increases with severity of mental retardation. We concluded that chromosomal studies in mentally retarded patients help in accurate diagnosis and proper prognosis followed by genetic counseling and management rehabilitations.

Rescue of a Dystrophin-like Protein by Exon Skipping In Vivo Restores GABAA-receptor Clustering in the Hippocampus of the mdx Mouse

Dystrophin, the cytoskeletal protein whose defect is responsible for Duchenne muscular dystrophy (DMD), is normally expressed in both muscles and brain. Genetic loss of brain dystrophin in the mdx mouse model of DMD reduces the capacity for type A gamma-aminobutyric acid (GABA(A))-receptor clustering in central inhibitory synapses, which is thought to be a main molecular defect leading to brain and cognitive alterations in this syndrome. U7 small nuclear RNAs modified to encode antisense sequences and expressed from recombinant adeno-associated viral (rAAV) vectors have proven efficient after intramuscular injection to induce skipping of the mutated exon 23 and rescue expression of a functional dystrophin-like product in muscle tissues of mdx mice in vivo. Here, we report that intrahippocampal injection of a single dose of rAAV2/1-U7 can rescue substantial levels of brain dystrophin expression (15-25%) in mdx mice for months. This is sufficient to completely restore GABA(A)-receptor clustering in pyramidal and dendritic layers of CA1 hippocampus, suggesting exon-skipping strategies offer the prospect to investigate and correct both brain and muscle alterations in DMD. This provides new evidence that in the adult brain dystrophin is critical for the control of GABA(A)-receptor clustering, which may have an important role in activity-dependent synaptic plasticity in hippocampal circuits.

Early concerns of mothers of children later diagnosed with autism: Implications for early identification

There is a need to identify early indicators in autism, particularly with reference to comorbid mental retardation and specific culture so that early intervention can be given. In this backdrop, this study aims to understand the early indicators of autism as perceived by the Indian mothers: the age of reporting and receiving diagnosis, and their variability due to comorbid mental retardation (MR). The study was conducted in two phases. In Phase-I, information about early concerns, age of reporting concerns, and subsequent diagnoses were elicited from 50 mothers of children later diagnosed with autism. From a wide range of concerns, only four showed significant correlation with the clinical diagnosis of autism, which were considered the early indicators. In Phase-II, information about the early indicators was collected from mothers of 10 children with autism and mental retardation and from mothers of another 10 children with mental retardation alone, matched for age gender, and severity of mental retardation. Results indicated that specific indicators could be identified from the mothers’ concerns, which could be from any of three core areas of autism. Comorbid mental retardation did not have any effect on early recognition and subsequent diagnosis. Implications of early indicators are discussed from a cultural perspective.

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Autosomal-recessive inheritance accounts for nearly 25% of nonsyndromic mental retardation (MR), but the extreme heterogeneity of such conditions markedly hampers gene identification. Combining autozygosity mapping and RNA expression profiling in a consanguineous Tunisian family of three MR children with mild microcephaly and white-matter abnormalities identified the TRAPPC9 gene, which encodes a NF-kappaB-inducing kinase (NIK) and IkappaB kinase complex beta (IKK-beta) binding protein, as a likely candidate. Sequencing analysis revealed a nonsense variant (c.1708C>T [p.R570X]) within exon 9 of this gene that is responsible for an undetectable level of TRAPPC9 protein in patient skin fibroblasts. Moreover, TNF-alpha stimulation assays showed a defect in IkBalpha degradation, suggesting impaired NF-kappaB signaling in patient cells. This study provides evidence of an NF-kappaB signaling defect in isolated MR.

Commentary: Diagnostic change and the increased prevalence of autism

Commentary: Diagnostic change and the increased prevalence of autism

Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions

BackgroundDuchenne muscular dystrophy (DMD) is caused by deficient expression of the cytoskeletal protein, dystrophin. One third of DMD patients also have mental retardation (MR), likely due to mutations preventing expression of dystrophin and other brain products of the DMD gene expressed from distinct internal promoters. Loss of Dp71, the major DMD-gene product in brain, is thought to contribute to the severity of MR; however, the specific function of Dp71 is poorly understood.Methodology/Principal FindingsComplementary approaches were used to explore the role of Dp71 in neuronal function and identify mechanisms by which Dp71 loss may impair neuronal and cognitive functions. Besides the normal expression of Dp71 in a subpopulation of astrocytes, we found that a pool of Dp71 colocalizes with synaptic proteins in cultured neurons and is expressed in synaptic subcellular fractions in adult brains. We report that Dp71-associated protein complexes interact with specialized modular scaffolds of proteins that cluster glutamate receptors and organize signaling in postsynaptic densities. We then undertook the first functional examination of the brain and cognitive alterations in the Dp71-null mice. We found that these mice display abnormal synapse organization and maturation in vitro, altered synapse density in the adult brain, enhanced glutamatergic transmission and reduced synaptic plasticity in CA1 hippocampus. Dp71-null mice show selective behavioral disturbances characterized by reduced exploratory and novelty-seeking behavior, mild retention deficits in inhibitory avoidance, and impairments in spatial learning and memory.Conclusions/SignificanceResults suggest that Dp71 expression in neurons play a regulatory role in glutamatergic synapse organization and function, which provides a new mechanism by which inactivation of Dp71 in association with that of other DMD-gene products may lead to increased severity of MR.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem. However, molecular basis underlying mental retardation and its severity remain poorly understood and still a matter of debate. Here, we report one of the largest study based on the comparison of clinical, cognitive, molecular and expression data in a large cohort of 81 patients affected with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin products, including Dp71 or all dystrophin products, except Dp71. In addition to the consistent data defining molecular basis underlying mental retardation in DMD, we show that BMD patients with MR have mutations that significantly affect Dp71 expression or with mutations located in exons 75 and 76. We also show that mutations upstream to exon 62, with DMD phenotype, predicted to lead to a loss-of-function of all dystrophin products, except Dp71 isoform, are associated, predominantly, with normal or borderline cognitive performances. Altogether, these reliable phenotype-genotype correlations in combination with Dp71 mRNA and protein expression studies, strongly indicate that loss-of-function of all dystrophin products is systematically associated with severe form of MR, and Dp71 deficit is a factor that contributes in the severity of MR and may account for a shift of 2 SD downward of the intelligence quotient.

Orofacial Findings in Conjunction with Infantile Cerebral Paralysis in Adults of Two Different Age Groups – a Cross-sectional Study

The objective of this cross-sectional study was to assess differentiated malocclusion symptoms and dental findings such as caries prevalence in patients suffering from infantile cerebral paralysis (CP, ICP), as well as the amount of dental and orthodontic treatment. Sixty-two patients suffering from infantile cerebral paralysis (ICP) aged from 18 to 78 years were included in the study and assigned to one of two groups according to age. The analysis was carried out on study models that had been measured using a caliper gauge and an electronic model-measuring procedure. Clinical caries status and sociological data were evaluated and statistically analyzed. While the group of older patients underwent no orthodontic treatment, we observed a statistically-significant increase in orthodontic treatment in the younger group with infantile cerebral paralysis. The model analysis revealed a mean overjet of 4.8 mm (SD+/-3.9 mm). There was a tendency toward open bite in terms of the vertical relation, with the mean overbite measuring 1.6 mm (+/-3.7 mm). Comparing the two age groups, we noted that greater age correlated significantly with reduced dental crowding symptoms in the lower jaw, contrary to the more common development of crowding in the normal population. The resulting value of the palatal height index was 40.8%, with no differences between the age groups. Compared to the index of 42.0% (according to the average data in the literature), those participating in this study and suffering from ICP had a flatter palatal vault. Our study parameter "dental intervention per year" revealed that 2/3 of the patients had three dentist appointments per year with no significant difference between the age groups. The ICP patients' mean DMF/T index value was 13.4, which appears to be generally lower than the published values concerning disabled persons in Germany and the healthy population. We observed an overall correlation between the frequency of malocclusions and severity of mental retardation. The amount of orthodontic treatment was significantly higher in the younger group (32.3%) than the older group (0%). In diagnostic terms, orthodontic treatment should follow the general guidelines, namely, the recommendation of removable devices as treatment appliances, and multidisciplinarily speaking, modified sequences of myofunctional therapy in consideration of the individual compliance prognosis and parental cooperation. In the multidisciplinary coordination of rehabilitation under general anesthesia, specific orthodontic measures may be undertaken (such as taking impressions, limited fixed appliance insertions, controlled extractions). An early treatment start in combination with the appropriate orthodontic device is desirable because of the improved, trainable reflex pattern. The dental therapy results are generally positive due to the fact that our patients met a tight dental recall schedule.

"Motivational Correlates of Emotional Intelligence of Secondary Teacher Trainees "

The present study attempts to show the difference in preference and use of toys, play material and/or game equipments in children with mental retardation. This varies according to child variables (such as, age, gender, presence/absence of problem behaviours, associated conditions and severity of mental retardation), family variables (such as, type of family, socio economic status, maternal age and education) respectively.It was studied on a sample of 140 children with mild and moderate mental retardation between chronological ages of 6-18 years and mental ages of 3-12 years. The sample included 71 boys and 69 girls. The results indicate that the toy preferences of children with mental retardation appear to be restricted to very few items, such as, ball, cycle, doll, wooden blocks, colour pencils, toy car, play ring, marbles, etc.

The role of cognition and adaptive behavior in employment of people with mental retardation

Few studies have specifically investigated the cognitive correlates of employment for persons with mental retardation. To evaluate the relationship of cognitive and adaptive functioning to work status, 56 competitively employed and 55 unemployed individuals with mental retardation underwent a comprehensive neuropsychological and adaptive behavioral evaluation. Results of multivariate analysis of covariance (MANCOVA) revealed significant group differences in cognitive and adaptive behavioral domains controlling for gender and severity of mental retardation. Follow-up ANCOVAs showed that the employed group performed significantly better than the unemployed group on measures of attention, memory, verbal comprehension, visual perception, and adaptive behavior. Using discriminant function analysis, 73.2 percent of the employed and 76.4 percent of the unemployed people were predicted correctly. These results suggest that adaptive behavior and specific aspects of cognitive functioning are significant predictors of successful employment for persons with mental retardation.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

Coffin-Lowry syndrome (CLS) is an X-linked mental retardation syndrome caused by defects in the RSK2 gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male and two females), all have severe mental retardation with the typical CLS phenotype. In addition, brain MRI studies on the three siblings revealed abnormalities in deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles. The degree of severity of the MRI findings correlated with the severity of mental retardation in the patients. Extensive mutation screening was performed on the entire RSK2 gene in this family. Twenty-two exons including the intron/exon junctions were amplified by PCR and subsequently sequenced on both strands. A novel mutation, a two-nucleotide insertion (298 ins TG), was identified. The insertion creates a stop codon at codon 100, resulting in a 99 amino acid truncated RSK2 protein. All patients tested have the same mutation, and no other mutation could be found in the RSK2 gene from the proband. The mutation was confirmed by PCR/RFLP. X-chromosome inactivation assay on the female patients revealed significant skewing toward inactivation of the normal RSK2 allele. Thus, this novel mutation is likely to be responsible for the unusual clinical presentation in this family, which includes full phenotypic expression in females and unique brain MRI abnormalities. The pathological function of the mutation and genotype/phenotype correlation between the mutation and this unusual clinical presentation await further clarification.

Tuberous Sclerosis Complex: Correlation of Magnetic Resonance Imaging (MRI) Findings With Comorbidities

We studied the magnetic resonance imaging (MRI) findings in a cohort of Chinese children with tuberous sclerosis complex to determine the relationship between age, sex, mental retardation, autism, epilepsy, infantile spasm, and early age at onset of seizures and the numbers and locations of tubers detected. We searched our tuberous sclerosis registry, established in 1985 (N = 44), and performed an analysis of children who had MRIs of the brain performed (n = 22). A neuroradiologist blinded to the clinical findings scored the MRIs according to the total number and site of the tubers. The following factors were analyzed: age, sex, presence of autism (n = 7), presence (n = 19) and severity of mental retardation (mild [n = 12], moderate to severe [n = 7]), presence of epilepsy (n = 21) or infantile spasm (n = 8), and age at onset of seizures less than 1 year (n = 10). There was no significant relationship between the number and site of tubers and the following factors: sex, autism, mental retardation, degree of mental retardation, epilepsy, history of infantile spasm, or age at onset of seizures less than 1 year. Only the presence of cortical tubers in the parietal regions had a significant relationship with the history of infantile spasm (P = .012). Using multiple regression analysis of all of the risk factors, only age is related to the number of tubers in the MRI (P = .047), and a history of infantile spasm is related to the presence of tubers in the parietal (P = .009) and occipital (P = .031) lobes. The associated comorbidities in tuberous sclerosis complex might be explained by more complex underlying genetic or pathologic issues rather than purely by the site of the cortical tubers. We suggest that a developmental approach, by analyzing the age at the appearance of tubers in both symptomatic and asymptomatic cases with the development of other neuropsychiatric comorbidities, should be undertaken to assess the causal relationship.

A total population study of challenging behaviour in the county of Hedmark, Norway: Prevalence, and risk markers

Studies in Britain and the US indicate that 10–15% of people with mental retardation show challenging behaviour, like attacking others (aggression), self-injurious behaviour, destruction, and other difficult, disruptive or socially unacceptable acts. Most researchers indicate that challenging behaviour is more common among adolescents and young adults, among males, is associated with autism, and increases with lack of communication skills and severity of mental retardation. These factors can be understood as risk markers, and some of them can be decreased by preventive and treatment interventions, at least in principle. The present study confirmed most of the previous findings, with some exceptions: the prevalence of more demanding challenging behaviour was somewhat lower in the present study, and no association between gender and challenging behaviour was found. We also concluded that declining prevalence of challenging behaviour at older ages is not a result of a young age structure of the population.

Drug utilisation by children and adolescents with mental retardation: a population study

Little is known about the utilisation of drugs by mentally retarded children; population studies are even more sparse. In this study the chronic drug utilisation in children aged 4-18 years with mental retardation in a large population in the Netherlands was investigated. Throughout all special schools and (day) care facilities for children with mental retardation in Friesland, parents/representatives were approached requesting participation of their children. Participants were interviewed about a number of aspects including medication use. For 921 of the 1,057 participants, information was available on medication use for those physical and psychiatric illnesses that bothered them or was expected to bother them for at least 3 months per year; 912 of the participants were within the age category under study: 4-18 years. About 22% of the 912 participants used chronic medication, 47% of whom used two or more drugs. The prevalence of drug use increased with severity of mental retardation from about 17% to 49%. The exception was the 6% of children with borderline intellectual functioning: their medication prevalence was 27%. Overall, 17% of the study population used a nervous system drug, 4% used a respiratory system drug and 3% used an alimentary tract drug. Of the drugs for the nervous system, alimentary tract and respiratory tract, 32% was prescribed off-label. For 3%, we were unable to establish on/off-label use. Chronic drug utilisation patterns in children and adolescents with mental retardation are different from those in the general paediatric population. These different patterns suggest the need for additional research.